Revel Score:
ENST00000394026
0.900
ENST00000555376
0.900
ENST00000238709
0.900
ENST00000334571 (MANE Select)
0.900
ENST00000556299
0.900
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73961761A>G , CM000676.2:g.73961761A>G | GRCh38 |
| NC_000014.8:g.74428464A>G , CM000676.1:g.74428464A>G | GRCh37 |
| NC_000014.7:g.73498217A>G | NCBI36 |
| NG_032805.1:g.16828A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334571.7:c.1235A>G (COQ6) MANE Select | ENSP00000333946.2:p.Tyr412Cys | |
| ENST00000238709.8:c.1232A>G (COQ6) | ENSP00000238709.5:p.Tyr411Cys | |
| ENST00000334571.6:c.1235A>G (COQ6) | ENSP00000333946.2:p.Tyr412Cys | |
| ENST00000394026.8:c.1160A>G (COQ6) | ENSP00000377594.4:p.Tyr387Cys | |
| ENST00000554341.6:c.*840A>G (COQ6) | ENSP00000450736.2:n.*840A>G | |
| ENST00000554920.5:c.482-1209A>G (COQ6) | ENSP00000451562.1:n.482-1209A>G | |
| ENST00000555829.5:c.225-211T>C (ENTPD5) | ||
| ENST00000556299.1:n.446A>G (COQ6) | ||
| ENST00000556588.5:n.2835A>G (COQ6) | ||
| ENST00000557325.5:c.1201-2208T>C (ENTPD5) | ENSP00000451810.1:n.1201-2208T>C | |
| ENST00000557780.5:n.343+191A>G (COQ6) | ||
| ENST00000629426.2:c.1010A>G (COQ6) | ENSP00000486650.1:p.Tyr337Cys | |
| NM_182476.2:c.1235A>G (COQ6) | NP_872282.1:p.Tyr412Cys | |
| NM_182480.2:c.1160A>G (COQ6) | NP_872286.2:p.Tyr387Cys | |
| XM_005267716.1:c.1070A>G (COQ6) | XP_005267773.1:p.Tyr357Cys | |
| XM_006720156.1:c.908A>G (COQ6) | XP_006720219.1:p.Tyr303Cys | |
| XM_006720325.2:c.1201-2208T>C (ENTPD5) | XP_006720388.1:n.1201-2208T>C | |
| XM_011536807.1:c.1127A>G (COQ6) | XP_011535109.1:p.Tyr376Cys | |
| XM_011536808.1:c.1010A>G (COQ6) | XP_011535110.1:p.Tyr337Cys | |
| XM_011536809.1:c.1010A>G (COQ6) | XP_011535111.1:p.Tyr337Cys | |
| XM_011536810.1:c.892-1209A>G (COQ6) | XP_011535112.1:n.892-1209A>G | |
| XM_011536811.1:c.695A>G (COQ6) | XP_011535113.1:p.Tyr232Cys | |
| NM_001321984.1:c.1201-211T>C (ENTPD5) | NP_001308913.1:n.1201-211T>C | |
| NM_001330189.1:c.1201-2208T>C (ENTPD5) | NP_001317118.1:n.1201-2208T>C | |
| XM_006720325.3:c.1201-2208T>C (ENTPD5) | XP_006720388.1:n.1201-2208T>C | |
| XM_011536807.2:c.1127A>G (COQ6) | XP_011535109.1:p.Tyr376Cys | |
| XM_011536808.2:c.1010A>G (COQ6) | XP_011535110.1:p.Tyr337Cys | |
| XM_011536809.3:c.1010A>G (COQ6) | XP_011535111.1:p.Tyr337Cys | |
| XM_011536810.3:c.892-1209A>G (COQ6) | XP_011535112.1:n.892-1209A>G | |
| XM_017021351.2:c.695A>G (COQ6) | XP_016876840.1:p.Tyr232Cys | |
| XM_017021352.2:c.629A>G (COQ6) | XP_016876841.1:p.Tyr210Cys | |
| XM_017021814.1:c.1201-2208T>C (ENTPD5) | XP_016877303.1:n.1201-2208T>C | |
| XM_017021817.1:c.1060-2208T>C (ENTPD5) | XP_016877306.1:n.1060-2208T>C | |
| XM_024449619.1:c.629A>G (COQ6) | XP_024305387.1:p.Tyr210Cys | |
| XR_001750342.1:n.1389A>G (COQ6) | ||
| NM_001321984.2:c.1201-211T>C (ENTPD5) | NP_001308913.1:n.1201-211T>C | |
| NM_001330189.2:c.1201-2208T>C (ENTPD5) | NP_001317118.1:n.1201-2208T>C | |
| NM_182476.3:c.1235A>G (COQ6) MANE Select | NP_872282.1:p.Tyr412Cys | |
| NM_001382258.1:c.1201-6174T>C (ENTPD5) | NP_001369187.1:n.1201-6174T>C | |
| NM_001382259.1:c.1201-2208T>C (ENTPD5) | NP_001369188.1:n.1201-2208T>C | |
| NM_001382260.1:c.1201-2208T>C (ENTPD5) | NP_001369189.1:n.1201-2208T>C | |
| NM_001382262.1:c.1201-5933T>C (ENTPD5) | NP_001369191.1:n.1201-5933T>C | |
| NM_182480.3:c.1160A>G (COQ6) | NP_872286.2:p.Tyr387Cys |